Irish Setter Epilepsy Research Update

Lotta Koskinen, PhD

Canine Genetics Research Group

University of Helsinki and Folkhälsan Research Center, Finland

Researchers at the University of Helsinki and Folkhälsan Research Center in Finland are collecting samples from Irish setters to study genetics of idiopathic, also called as primary or genetic, epilepsy in the breed. The project is carried out by Professor Hannes Lohi’s research group in collaboration with researchers in the University of Utrecht, Netherlands, and University of Missouri, USA. Lohi’s research group focuses in the identification of genes underlying various diseases and traits in dogs, with the main interest in neurological disorders. As epilepsy is the most common neurological disease in dogs, epilepsy in multiple dog breeds one of the most important projects in the group.

According to pedigree analyses, epilepsy is an inherited disorder in many dog breeds including Irish Setters. Despite genetic contribution, there are only a few genes identified for canine epilepsy to date. The common, adult onset idiopathic epilepsy in dogs is most likely not a disease caused by a mutation in a single gene. It is likely that there are genetic variants, which increase the risk of seizures, but do not necessarily cause them in all individuals carrying them. The preliminary results gained from a genetic analysis of altogether 75 Irish Setters collected in the USA by Prof. Gary Johnson’s research group (University of Missouri) support this idea of a more complex inheritance model than previously suspected based on pedigrees, as no epilepsy-associated genes were identified in this cohort. To identify the epilepsy-associated genetic variation in Irish Setters, more samples are being collected from epilepsy-affected and unaffected dogs. The unaffected dogs should be more than 7 years old without any symptoms of epilepsy.

Currently, samples are actively being collected in Finland, United Kingdom, Netherlands, Switzerland and Estonia. By August 2014, samples from 287 red Irish Setters were submitted to the research project, this included 54 samples from United Kingdom. Thirty-six of them were reported to have epilepsy (16 from UK). The number of sampled dogs with epilepsy has been increasing during the past couple of years, but still more samples are needed to continue with the research.

In addition to samples, thorough and up-to-date health information is collected from each dog as well as pedigree information. A 10-page epilepsy questionnaire is collected from each dog with epileptic seizures.

Even if an adequate number of samples is collected to continue with the genetic studies and the disease-predisposing gene is identified, it may not be possible to develop a genetic test. It depends on how strongly the risk-conferring genotype and epilepsy phenotype are correlated. However, the identification of a risk gene would help us in understanding many aspects of the disease in the breed, and about the molecular pathogenesis of epilepsy in general.

August 2014


If you would like to be part of this research further information and swab packs can be obtained from:
Meg Webb: SEISC Health Representative

If you already have packs and haven’t yet used them then please do so as soon as you can.


This initiative is supported by The Joint Irish Setter Breed Clubs Health Committee.